A father with somatogonadal mosaicism of COL2A1 c.1403G > A (22% mosaicism in blood DNA) exhibited average stature (height 173 cm) and had two affected fetuses with severe type 2 collagenopathy carrying the heterogynous mutation identified by Morrison et al. [16]. This evidence concerns the gene COL2A1 and type 2 collagenopathy.